Aliases for CEP295NL Gene

Aliases for CEP295NL Gene

  • CEP295 N-Terminal Like 2 3 5
  • KIAA1731 N-Terminal Like Protein 3 4
  • KIAA1731NL 3 4
  • DDC8 2 3
  • CEP295 N-Terminal-Like Protein 4
  • Differential Display Clone 8 3
  • KIAA1731 N-Terminal Like 2
  • Protein DDC8 Homolog 3
  • CEP295NL 5

External Ids for CEP295NL Gene

Previous HGNC Symbols for CEP295NL Gene

  • KIAA1731NL

Summaries for CEP295NL Gene

GeneCards Summary for CEP295NL Gene

CEP295NL (CEP295 N-Terminal Like) is a Protein Coding gene. Diseases associated with CEP295NL include Moyamoya Disease 1. An important paralog of this gene is CEP295.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP295NL Gene

Genomics for CEP295NL Gene

GeneHancer (GH) Regulatory Elements Pubs


GeneHancers around CEP295NL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP295NL

Genomic Locations for CEP295NL Gene

Latest Assembly
chr17:78,870,910-78,903,217
(GRCh38/hg38)
Size:
32,308 bases
Orientation:
Minus strand

Previous Assembly
chr17:76,886,661-76,899,283
(GRCh37/hg19 by Entrez Gene)
Size:
12,623 bases
Orientation:
Minus strand

chr17:76,866,992-76,899,299
(GRCh37/hg19 by Ensembl)
Size:
32,308 bases
Orientation:
Minus strand

Genomic View for CEP295NL Gene

Genes around CEP295NL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP295NL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP295NL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP295NL Gene

Proteins for CEP295NL Gene

  • Protein details for CEP295NL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MC4-C295L_HUMAN
    Recommended name:
    CEP295 N-terminal-like protein
    Protein Accession:
    Q96MC4

    Protein attributes for CEP295NL Gene

    Size:
    621 amino acids
    Molecular mass:
    69839 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CEP295NL Gene

Post-translational modifications for CEP295NL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CEP295NL Gene

No data available for DME Specific Peptides for CEP295NL Gene

Domains & Families for CEP295NL Gene

Gene Families for CEP295NL Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CEP295NL Gene

ProtoNet:
genes like me logo Genes that share domains with CEP295NL: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CEP295NL Gene

Function for CEP295NL Gene

Phenotypes From GWAS Catalog for CEP295NL Gene

Gene Ontology (GO) - Molecular Function for CEP295NL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004857 enzyme inhibitor activity IEA --
GO:0008017 microtubule binding IBA 21873635
GO:0008191 metalloendopeptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with CEP295NL: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP295NL

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CEP295NL Gene

Localization for CEP295NL Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP295NL Gene

Cell projection, cilium. Note=Colocalizes to the motile cilium of mature spermatozoa. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CEP295NL gene
Compartment Confidence
cytosol 4
cytoskeleton 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CEP295NL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IBA 21873635
GO:0005814 centriole IBA 21873635
GO:0005829 cytosol IBA 21873635
GO:0005929 cilium IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CEP295NL: view

Pathways & Interactions for CEP295NL Gene

PathCards logo

SuperPathways for CEP295NL Gene

No Data Available

Interacting Proteins for CEP295NL Gene

Gene Ontology (GO) - Biological Process for CEP295NL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0043086 negative regulation of catalytic activity IEA --
GO:0046599 regulation of centriole replication IBA 21873635
genes like me logo Genes that share ontologies with CEP295NL: view

No data available for Pathways by source and SIGNOR curated interactions for CEP295NL Gene

Drugs & Compounds for CEP295NL Gene

No Compound Related Data Available

Transcripts for CEP295NL Gene

mRNA/cDNA for CEP295NL Gene

2 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEP295NL

Alternative Splicing Database (ASD) splice patterns (SP) for CEP295NL Gene

No ASD Table

Relevant External Links for CEP295NL Gene

GeneLoc Exon Structure for
CEP295NL

Expression for CEP295NL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CEP295NL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CEP295NL Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEP295NL

genes like me logo Genes that share expression patterns with CEP295NL: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP295NL Gene

Orthologs for CEP295NL Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP295NL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC100609898 30
  • 99.11 (n)
-- 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC100125412 30
  • 67.22 (n)
Mouse
(Mus musculus)
Mammalia BC100451 30 31
  • 61.45 (n)
OneToOne
Cep295nl 17
Rat
(Rattus norvegicus)
Mammalia Ddc8 30
  • 59.85 (n)
Dog
(Canis familiaris)
Mammalia -- 31
  • 37 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 11 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 25 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 17 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii KIAA1731 31
  • 31 (a)
OneToMany
Species where no ortholog for CEP295NL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CEP295NL Gene

ENSEMBL:
Gene Tree for CEP295NL (if available)
TreeFam:
Gene Tree for CEP295NL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CEP295NL: view image

Paralogs for CEP295NL Gene

Paralogs for CEP295NL Gene

genes like me logo Genes that share paralogs with CEP295NL: view

Variants for CEP295NL Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CEP295NL Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CEP295NL Gene

Variant ID Type Subtype PubMed ID
esv2031325 CNV deletion 18987734
esv3554834 CNV deletion 23714750
nsv1066843 CNV gain 25217958

Additional Variant Information for CEP295NL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP295NL

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for CEP295NL Gene

Disorders for CEP295NL Gene

MalaCards: The human disease database

(1) MalaCards diseases for CEP295NL Gene - From: COP

Disorder Aliases PubMed IDs
moyamoya disease 1
  • mymy1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CEP295NL

genes like me logo Genes that share disorders with CEP295NL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CEP295NL Gene

Publications for CEP295NL Gene

  1. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. (PMID: 30631154) Hu Q … Yang L (Cell research 2019) 3
  4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3

Products for CEP295NL Gene

Sources for CEP295NL Gene